What are the symptoms of Hermansky-Pudlak syndrome?

What are the symptoms of Hermansky-Pudlak syndrome?

The classic symptoms of Hermansky-Pudlak syndrome include the lack of color (pigmentation) in the skin, hair, and eyes (oculocutaneous albinism), and dysfunction of blood platelets leading to prolonged bleeding (storage pool-deficient platelets).

How common is Hermansky-Pudlak syndrome?

Hermansky-Pudlak syndrome (HPS) is rare, with a prevalence of 1 to 9 in 1,000,000 individuals worldwide [4], but is more common in certain populations.

What are the abnormalities and anomalies associated with platelets?

Specific types of platelet disorders

  • Bernard Soulier disease.
  • Glanzmann’s thrombasthenia.
  • Hermansky Pudlak syndrome.
  • Jacobsen syndrome.
  • Lowe syndrome.
  • Platelet release and storage pool defects.
  • Thrombocytopenia with absent radius (TAR) syndrome.
  • Thrombotic thrombocytopenic purpura (TTP)

What is the most common inherited bleeding disorder?

The most common types of inherited bleeding disorders are von Willebrand’s disorder , Haemophilia A (a deficiency of Factor VIII) and Haemophilia B (a deficiency of Factor IX), also known as Christmas Disease.

How do you test for Hermansky-Pudlak syndrome?

The most accurate test for the diagnosis of HPS is platelet electron microscopy. Platelets of individuals with the syndrome show virtual absence of DB.

What is Hermansky-Pudlak syndrome type 3?

Hermansky-Pudlak syndrome, type 3 is an autosomal recessive disorder that is caused by pathogenic variants in the gene HPS3. It is a rare disease worldwide, but is more prevalent in individuals of Ashkenazi Jewish or Puerto Rican descent due to the presence of a founder mutation.

What causes Hermansky-Pudlak syndrome?

Mutations in some of the genes that cause Hermansky-Pudlak syndrome affect the normal functioning of LROs in lung cells, leading to pulmonary fibrosis. Mutations in the HPS1 gene cause approximately 75 percent of the Hermansky-Pudlak syndrome cases from Puerto Rico.

Which is the most common cause of acquired platelet dysfunction?

Acquired platelet dysfunction, which is common, may result from aspirin, other nonsteroidal anti-inflammatory drugs (NSAIDs), or systemic disorders.

Which disease is also called Christmas disease?

Hemophilia B is the second most common type of hemophilia. 1,2. It is also known as factor IX deficiency, or Christmas disease. It was originally named “Christmas disease” after the first person diagnosed with the disorder back in 1952.

What is the difference between hereditary bleeding disorders and acquired bleeding disorders?

Bleeding disorders fall into two main categories: inherited and acquired. Inherited bleeding disorders have a genetic predisposition and involve a deficiency of coagulation factors. Acquired bleeding disorders can be caused by conditions that an individual may develop at any point during their lifetime.

Who discovered hermansky pudlak?

HPS was first described in 1959 by Dr. Frantisek Hermansky and Dr. Paulus Pudlak, who identified two patients with oculocutaneous albinism and bleeding diathesis in Czechoslovakia (11). HPS is a non–sex-linked autosomal recessive disorder with no known disease manifestations in carriers.

What is Griscelli syndrome?

Description. Collapse Section. Griscelli syndrome is an inherited condition characterized by unusually light (hypopigmented) skin and light silvery-gray hair starting in infancy. Researchers have identified three types of this disorder, which are distinguished by their genetic cause and pattern of signs and symptoms.

What causes platelet dysfunction?

Platelet function disorders can develop or be inherited. The most common reason for someone to develop a platelet function disorder is from taking medication. Medicines such as ibuprofen or aspirin can affect platelet function. People with some liver or kidney problems may develop a platelet function disorder.

How is platelet dysfunction treated?

Bone marrow disorders are often treated with platelet transfusions or removing platelets from the blood (platelet pheresis). Chemotherapy may be used to treat an underlying condition that is causing the problem. Platelet function defects caused by kidney failure are treated with dialysis or medicines.

How do you test for platelet dysfunction?

Platelet tests are sometimes done along with one or more of the following blood tests:

  1. MPV blood test, which measures the size of your platelets.
  2. Partial thromboplastin time (PTT) test, which measures the time it takes for blood to clot.
  3. Prothrombin time and INR test, which checks the body’s ability to form blood clots.

What is the royal disease?

Hemophilia is sometimes referred to as “the royal disease,” because it affected the royal families of England, Germany, Russia and Spain in the 19th and 20th centuries. Queen Victoria of England, who ruled from 1837-1901, is believed to have been the carrier of hemophilia B, or factor IX deficiency.

What is factor12 deficiency?

General Discussion. Summary. Factor XII deficiency is a rare genetic blood disorder that causes prolonged clotting (coagulation) of blood in a test tube without the presence of prolonged clinical bleeding tendencies. It is caused by a deficiency of the factor XII (Hageman factor), a plasma protein (glycoprotein).

What are the three most common congenital coagulation deficiencies?

The three most common hereditary bleeding disorders are hemophilia A (factor VIII deficiency), hemophilia B (factor IX deficiency) and von Willebrand disease.